Canonical Allele Identifier: CA726463920

Gene: TTC19

Linked Data

• dbSNP Id: rs1452131648
• gnomAD v3: 17-16028221-CTG-C
• gnomAD v4: 17-16028221-CTG-C
• MyVariant Identifiers: chr17:g.15931536_15931537del (hg19) ; chr17:g.16028222_16028223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028225_16028226del , CM000679.2:g.16028225_16028226del	GRCh38
NC_000017.10:g.15931539_15931540del , CM000679.1:g.15931539_15931540del	GRCh37
NC_000017.9:g.15872264_15872265del	NCBI36
NG_029806.1:g.33846_33847del
NG_047111.1:g.193524_193525del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*703_*704del MANE Select	ENSP00000261647.5:n.*703_*704del
ENST00000261647.9:c.*703_*704del	ENSP00000261647.5:n.*703_*704del
ENST00000465567.1:n.2240_2241del
ENST00000470649.1:c.247+1523_247+1524del	ENSP00000465627.1:n.247+1523_247+1524del
ENST00000475723.5:c.2030_2031del
ENST00000481107.1:n.2514_2515del
NM_001271420.1:c.*703_*704del	NP_001258349.1:n.*703_*704del
NM_017775.3:c.*703_*704del	NP_060245.3:n.*703_*704del
XM_017024801.2:c.994+1523_994+1524del	XP_016880290.2:n.994+1523_994+1524del
XM_017024802.2:c.994+1523_994+1524del	XP_016880291.2:n.994+1523_994+1524del
NM_017775.4:c.*703_*704del MANE Select	NP_060245.3:n.*703_*704del
NM_001271420.2:c.*703_*704del	NP_001258349.1:n.*703_*704del